Varaico: Literature-Extracted Genetic Variants

NALCN

279 papers

RefSeq Summary

This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitabili...

Pfam Domains

Ion_transaa 35–333UCSCIon transport protein

Ion_transaa 383–610UCSCIon transport protein

Ion_transaa 885–1166UCSCIon transport protein

Ion_transaa 1209–1458UCSCIon transport protein

Gene Aliases

HGNC Name

sodium leak channel, non-selective

HGNC Previous Symbol

VGCNL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052867.4

p.N315K

c.945C>G

Surrounding Variants

1 paper

NM_052867.4

p.N315K

c.945C>A

2 papers

NM_052867.4

p.V316M

c.946G>A

2 papers

NM_052867.4

p.F317C

c.950T>G

1 paper

NM_052867.4

p.A319V

c.956C>T

6 papers

NM_052867.4

p.I322T

c.965T>C

5 papers

NM_052867.4

p.E327K

c.979G>A

1 paper

NM_052867.4

p.G337E

c.1010G>A

6 papers

NM_052867.4

p.V313G

c.938T>G

4 papers

NM_052867.4

p.L312V

c.934C>G

6 papers

NM_052867.4

p.L312I

c.934C>A

1 paper

NM_052867.4

p.A310T

c.928G>A

1 paper

NM_052867.4

p.R295H

c.884G>A